Carbohydrates Metabolism

Question 1

How do patients with galactosemia present?

Answer 1

Appear normal at birth until first formula with lactulose (MBM or formula). Then get poor feeding and FTT

Clinical features:

1. Abdominal distension with hepatomegaly
2. Hypoglycemia
3. Non-glucose reducing substances in the urine
4. Lethargy and hypotonia

*Associated with prolonged jaundice and gram negative organisms (E. coli)

Question 2

What is the cause of and how do you diagnose & treat patients with galactosemia?

Answer 2

Deficiency of galactose-1-phsophate uridyltransferase (GALT).

Diagnosis:
Measure GALT in RBCs

Treatment:
Provide soy based formula. Repeat NBS. 
If you don't treat you can get
1. Cataracts (they are reversible)
2. Intellectual disability
3. Liver Disease

Question 3

What is the typical presentation of a pt with hyperinsulinism?

Answer 3

Afebrile Infant with generalized seizures. They are hypoglycemia that is remedied with an injection of glucagon.

Height, weight, and head circumference are all in the upper limits of normal (>95th %)

*W/o Beckwith-Wiedemann also has hypoglycemia but you get microcephaly, omphalocele, macroglossia, and visceromegaly. Also it is due to islet cell hyperplasia.

Question 4

What is the typical presentation of a pt with Glycogen Storage Disease Type I (Von Gierke)?

Answer 4

Hypoglycemia-->seizures
Distended Abdomen
Doll-like/ Cherubic face
Consanguinity common feature
Poor growth
Large liver
Elevated Triglycerides and Cholesterol
*Get hypoglycemia with fasting!

Question 5

What is the typical presentation of a pt with Glycogen Storage Disease Type II (Pompe)?

Answer 5

Floppy babies
Hard muscles
Macroglossia
FTT
Cardiomegaly
Hepatomegaly

DOES NOT CAUSE hypoglycemia or acidosis

Question 6

What causes Glycogen Storage Disease Type I (Von Gierke) and how do you treat it?

Answer 6

Due to deficiency of hepatic glucose-6-phosphatase.

This is the final step in the liver to produce glucose. Prolonged fasting is bad

Treat with frequent snacks and meals, tube feeds
> 20 add cornstarch

NEED GLUCOSE to help, not anything else (like glucagon)

Question 7

What causes Glycogen Storage Disease Type II (Pompe)?

Answer 7

Deficiency in lysosomal breakdown of glycogen